Phenotype #0000232747

Individual ID 00306924
Associated disease CMT
Phenotype details see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; no upper extremity involvement; no proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment; tremor
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal dominant
Diagnosis/Definite CMT2Z
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset 9y
Phenotype/Onset gait disturbance
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-07-24 09:59:44 +02:00 (CEST)
Date last edited N/A

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